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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SAMD9
(G1564S)
Single nucleotide variant
(missense variant)
MIRAGE syndrome
GLikely pathogenic
SAMD9
(N1243fs)
Deletion
(frameshift variant)
MIRAGE syndrome
+1 more
GUncertain significance
SAMD9
(T932I)
Single nucleotide variant
(missense variant)
MIRAGE syndrome
GLikely pathogenic
SAMD9
(F437C)
Single nucleotide variant
(missense variant)
MIRAGE syndrome
GLikely pathogenic
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